Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis.

Journal Article (Journal Article)

Evaluation for intracranial lesions in a patient with retinal cavernous hemangiomas is vital for early recognition of this heritable and potentially life-threatening disease. We report a case of a highly penetrant but variably expressed form of cerebral cavernous malformation syndrome with cerebral, cutaneous, and retinal cavernomas in a family found to harbor a nonsense mutation of the CCM1 gene.

Full Text

Duke Authors

Cited Authors

  • Labowsky, MT; Walter, SD; McDonald, MT; Mruthyunjaya, P

Published Date

  • October 2017

Published In

Volume / Issue

  • 21 / 5

Start / End Page

  • 426 - 429.e1

PubMed ID

  • 28867399

Electronic International Standard Serial Number (EISSN)

  • 1528-3933

Digital Object Identifier (DOI)

  • 10.1016/j.jaapos.2017.06.012

Language

  • eng

Conference Location

  • United States